Incidental Mutation 'R8207:Galnt13'
| ID |
635947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt13
|
| Ensembl Gene |
ENSMUSG00000060988 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 13 |
| Synonyms |
pp-GalNAc-T13 |
| MMRRC Submission |
067630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R8207 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
54326329-55008321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 54770122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 305
(I305L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068595]
[ENSMUST00000112634]
[ENSMUST00000112635]
[ENSMUST00000112636]
|
| AlphaFold |
Q8CF93 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068595
AA Change: I305L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: I305L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
115 |
368 |
1.5e-11 |
PFAM |
|
Pfam:Glycos_transf_2
|
118 |
302 |
7.4e-35 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
118 |
343 |
3.1e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
280 |
348 |
4.8e-9 |
PFAM |
|
RICIN
|
427 |
550 |
9.63e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112634
AA Change: I305L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: I305L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
115 |
367 |
2.7e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
118 |
302 |
1.8e-38 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
118 |
343 |
3.2e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
280 |
348 |
4.9e-10 |
PFAM |
|
RICIN
|
427 |
586 |
5.34e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112635
AA Change: I305L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: I305L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
115 |
368 |
1.5e-11 |
PFAM |
|
Pfam:Glycos_transf_2
|
118 |
302 |
7.4e-35 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
118 |
343 |
3.1e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
280 |
348 |
4.8e-9 |
PFAM |
|
RICIN
|
427 |
550 |
9.63e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112636
AA Change: I305L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: I305L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
115 |
368 |
1.5e-11 |
PFAM |
|
Pfam:Glycos_transf_2
|
118 |
302 |
7.4e-35 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
118 |
343 |
3.1e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
280 |
348 |
4.8e-9 |
PFAM |
|
RICIN
|
427 |
550 |
9.63e-34 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004]
PHENOTYPE: Galnt13 is expressed exclusively in neuronal cells. Conditional animals can be used with cre-expressing strains to produce total or tissue-specific deletion of this locus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,552,491 (GRCm39) |
M150I |
possibly damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,606,082 (GRCm39) |
N279S |
possibly damaging |
Het |
| Arid3a |
T |
C |
10: 79,786,760 (GRCm39) |
|
probably null |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,446 (GRCm39) |
T1840A |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,525,413 (GRCm39) |
N235K |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,922,076 (GRCm39) |
V56A |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,512,574 (GRCm39) |
R837H |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,445,312 (GRCm39) |
N518S |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,576,515 (GRCm39) |
D137G |
possibly damaging |
Het |
| Cpt1b |
T |
C |
15: 89,303,018 (GRCm39) |
T649A |
probably damaging |
Het |
| Efcab8 |
C |
G |
2: 153,631,145 (GRCm39) |
L192V |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,548,965 (GRCm39) |
R1024G |
probably benign |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Fmo1 |
T |
A |
1: 162,677,676 (GRCm39) |
T147S |
probably benign |
Het |
| Fryl |
A |
C |
5: 73,257,843 (GRCm39) |
|
probably null |
Het |
| Guca2a |
A |
G |
4: 119,494,951 (GRCm39) |
N2D |
unknown |
Het |
| Iqcd |
C |
T |
5: 120,740,514 (GRCm39) |
R282W |
probably damaging |
Het |
| Lamc1 |
A |
C |
1: 153,126,268 (GRCm39) |
C475G |
probably damaging |
Het |
| Map3k5 |
AAAAGAAAAAGA |
AA |
10: 19,986,612 (GRCm39) |
|
probably null |
Het |
| Med13 |
A |
T |
11: 86,194,375 (GRCm39) |
D789E |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,569,651 (GRCm39) |
Y1207C |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,967,892 (GRCm39) |
D977G |
possibly damaging |
Het |
| Mrpl53 |
A |
T |
6: 83,086,169 (GRCm39) |
N26I |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 49,869,760 (GRCm39) |
|
probably null |
Het |
| Ogdh |
T |
G |
11: 6,299,329 (GRCm39) |
F743V |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,222 (GRCm39) |
M298K |
possibly damaging |
Het |
| Or4n4 |
C |
T |
14: 50,519,036 (GRCm39) |
V225I |
probably benign |
Het |
| Or6c3 |
A |
G |
10: 129,308,953 (GRCm39) |
T131A |
probably benign |
Het |
| Plscr1l1 |
T |
A |
9: 92,233,061 (GRCm39) |
F61L |
probably benign |
Het |
| Pmvk |
A |
G |
3: 89,375,899 (GRCm39) |
E174G |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,414,158 (GRCm39) |
N206D |
|
Het |
| Prelid3a |
A |
T |
18: 67,606,018 (GRCm39) |
S42C |
probably benign |
Het |
| Riok1 |
T |
A |
13: 38,236,296 (GRCm39) |
H347Q |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,789,650 (GRCm39) |
L1488P |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,052,109 (GRCm39) |
V158A |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,360,076 (GRCm39) |
I43M |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,654,080 (GRCm39) |
N755S |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tfb2m |
G |
A |
1: 179,373,668 (GRCm39) |
P10L |
probably benign |
Het |
| Trim30c |
T |
C |
7: 104,032,703 (GRCm39) |
M252V |
probably benign |
Het |
| Ttll1 |
A |
G |
15: 83,384,279 (GRCm39) |
L116P |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,440,248 (GRCm39) |
H91Y |
possibly damaging |
Het |
| Vgll4 |
A |
G |
6: 114,839,786 (GRCm39) |
S175P |
probably damaging |
Het |
| Vmn1r79 |
A |
G |
7: 11,910,415 (GRCm39) |
Y99C |
possibly damaging |
Het |
| Vmn2r80 |
C |
T |
10: 79,030,150 (GRCm39) |
Q659* |
probably null |
Het |
| Zfp382 |
A |
G |
7: 29,833,840 (GRCm39) |
D497G |
possibly damaging |
Het |
| Zfp41 |
A |
G |
15: 75,490,384 (GRCm39) |
E112G |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,307,605 (GRCm39) |
S1754P |
probably damaging |
Het |
|
| Other mutations in Galnt13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Galnt13
|
APN |
2 |
54,406,547 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL00769:Galnt13
|
APN |
2 |
54,770,116 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01533:Galnt13
|
APN |
2 |
54,770,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Galnt13
|
APN |
2 |
54,747,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02363:Galnt13
|
APN |
2 |
55,002,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02493:Galnt13
|
APN |
2 |
54,770,149 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03108:Galnt13
|
APN |
2 |
54,744,660 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03219:Galnt13
|
APN |
2 |
54,823,447 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
G1patch:Galnt13
|
UTSW |
2 |
54,745,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Galnt13
|
UTSW |
2 |
54,988,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Galnt13
|
UTSW |
2 |
54,744,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0379:Galnt13
|
UTSW |
2 |
54,950,504 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1321:Galnt13
|
UTSW |
2 |
54,988,606 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1509:Galnt13
|
UTSW |
2 |
54,623,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Galnt13
|
UTSW |
2 |
54,744,657 (GRCm39) |
missense |
probably benign |
|
|
R1539:Galnt13
|
UTSW |
2 |
54,747,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Galnt13
|
UTSW |
2 |
54,744,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Galnt13
|
UTSW |
2 |
54,950,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Galnt13
|
UTSW |
2 |
54,950,595 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2365:Galnt13
|
UTSW |
2 |
54,744,709 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2367:Galnt13
|
UTSW |
2 |
55,002,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3687:Galnt13
|
UTSW |
2 |
54,770,074 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3726:Galnt13
|
UTSW |
2 |
54,988,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3730:Galnt13
|
UTSW |
2 |
54,823,519 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3731:Galnt13
|
UTSW |
2 |
54,823,519 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4626:Galnt13
|
UTSW |
2 |
54,747,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Galnt13
|
UTSW |
2 |
54,950,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Galnt13
|
UTSW |
2 |
54,406,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:Galnt13
|
UTSW |
2 |
54,747,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Galnt13
|
UTSW |
2 |
54,406,491 (GRCm39) |
start gained |
probably benign |
|
|
R6244:Galnt13
|
UTSW |
2 |
54,823,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6725:Galnt13
|
UTSW |
2 |
54,745,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Galnt13
|
UTSW |
2 |
54,988,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7448:Galnt13
|
UTSW |
2 |
54,406,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7635:Galnt13
|
UTSW |
2 |
54,747,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Galnt13
|
UTSW |
2 |
55,002,873 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8003:Galnt13
|
UTSW |
2 |
54,950,497 (GRCm39) |
nonsense |
probably null |
|
|
R8525:Galnt13
|
UTSW |
2 |
54,950,488 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8539:Galnt13
|
UTSW |
2 |
54,823,584 (GRCm39) |
splice site |
probably null |
|
|
R8885:Galnt13
|
UTSW |
2 |
54,770,138 (GRCm39) |
missense |
probably benign |
|
|
R8946:Galnt13
|
UTSW |
2 |
54,770,075 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9306:Galnt13
|
UTSW |
2 |
54,823,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9340:Galnt13
|
UTSW |
2 |
54,770,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9362:Galnt13
|
UTSW |
2 |
54,623,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9444:Galnt13
|
UTSW |
2 |
55,002,928 (GRCm39) |
missense |
probably benign |
|
|
R9590:Galnt13
|
UTSW |
2 |
54,747,973 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9779:Galnt13
|
UTSW |
2 |
54,623,062 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACCTGCAGATTTAACTAGGC -3'
(R):5'- GTGGGGAAAGCTTCAATTAGC -3'
Sequencing Primer
(F):5'- AACTAGGCATTGTTTCTTCAGTG -3'
(R):5'- GCTTCAATTAGCAAATAAGGCTACTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation